Friday, July 26, 2013

Toulouse Lautrec Syndrome

Pycnodysostosis is a rare genetic disease characterized by brittle bones and short stature. Adult men with this disease on average rarely grow taller than 4 feet, 1 inch. Pycnodysostosis is more commonly know as Toulouse Lautrec Syndrome, or TLS. It is named after 19th-century French painter Henri de Toulouse-Lautrec. Born into the close-knit world of the French aristocracy, Toulouse-Lautrec's parents were first cousins. It was though Toulouse-Lautrec's health problems were the result of generations of inbreeding.

How is TLS Inherited

Toulouse Lautrec Syndrome is an autosomal recessive disease. Autosomal recessive means both parents must be carriers of the gene. They must both pass that gene on to their child. The odds of both parents carrying the gene conceiving a child who will inherent both genes and develop TLS are 1 in 4.

Some Complications of TLS

Toulouse Lautrec Syndrome affects bone structure development. In addition to causing brittle bones and altering normal height development, sufferers may also have thickening of the bones, short fingers, slow development and delay loss of baby teeth. Adult teeth may be missing. Thick, brittle bones break easily. The collarbone and the distal phalanges of the fingers may deteriorate slowly over time. The spinal cord can develop curvature of the spine, or scoliosis . TLS also affects bone development in the face and the top of skull.

Life Expectancy

According to the Hide and Seek Foundation for Lysosomal Disease Search, the life expectancy of someone with Toulouse Lautrec Syndrome is normal. Proper medical and dental care will add greatly to the patient's quality of life.

Treatment for TLS

There are no treatment protocols to cure TLS. Treatment and care involve maintaining overall heath and treating complications of the disease it affects. Because of the brittleness of their bones, the major complication for people with TLS is broken bones. Early diagnosis with an eye toward lessening or even preventing bone breakage is essential for maintaining overall health. Oral hygiene and dental care are also important to maintaining overall health in affected individuals. Because height is impacted by Toulouse Lautrec Syndrome, human growth hormone may be considered in the treating of TLS. Some individuals may eventually need to use crutches or a wheelchair in order to maintain their mobility.

Quaility of Life

Toulouse Lautrec Syndrome is a debilitating disorder that can limit the quality of some life areas. For example, individual with TLS are going to be advised not to participate in contact sports. However, its most famous sufferer, Henri de Toulouse-Lautrec, went on to be a painter fully active in the society of his day.